![]() ![]() The patients presented with adult-onset pain, most commonly a burning sensation in the extremities, although 2 patients had generalized bodily pain. In 8 (28.6%) of 28 unrelated Dutch Caucasian patients with biopsy-confirmed small fiber neuropathy (SFNP see 133020), Faber et al. (2005) identified a heterozygous mutation in the SCN9A gene ( 603415.0003). In 5 affected members of a Flemish family with primary erythermalgia, Michiels et al. In affected members of a Chinese family with primary erythermalgia ( 133020) linked to chromosome 2q and in a sporadic patient, Yang et al. (2019) found that endogenous epitope-tagged SCN9A was highly expressed in human induced pluripotent stem cell (iPSC) nociceptors and was trafficked appropriately to polarized neuronal compartments, such as soma membrane, axon, axon terminals, and nodes of Ranvier. ![]() (2004) found that SCN9A was the major sodium channel expressed in smooth muscle cells cultured from normal human bronchus, main pulmonary artery, and large coronary artery. (1997) stated that NE is the human ortholog of the rat PN1 sodium channel.īy electrophysiologic and inhibitor studies and quantitative RT-PCR analysis, Jo et al. Neither rat PN1 nor human NE was expressed in skeletal muscle. ![]() (1997) determined that NENA, which they designated NE for neuroendocrine channel, was expressed in the same tissues as rat PN1 (peripheral sodium channel-1), including dorsal root ganglia, adrenal, and thyroid tissue. Northern blot analysis detected 9.4- and 7.0-kb NENA transcripts in a human C-cell carcinoma cell line.īy RT-PCR, Sangameswaran et al. The sequence is highly similar to brain and skeletal muscle voltage-gated sodium channels the authors stated that this channel represents an evolutionary link between sodium channels found in brain and skeletal muscle. Sequence analysis revealed that the cDNA encodes a 1,977-amino acid polypeptide (Nav1.7) composed of 4 domains, each with 6 transmembrane domains and 2 highly conserved pore-forming segments. (1995) cloned a novel voltage-gated sodium channel, which they termed NENA, from a human medullary thyroid carcinoma cell cDNA library. ![]()
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